1187565005: Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4674175018 Autosomal dominant Charcot-Marie-Tooth disease type 2Y en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674176017 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674177014 Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674178016 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674179012 A rare axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioral abnormalities have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4674180010 A rare axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioural abnormalities have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9998211000172117 maladie de Charcot-Marie-Tooth autosomique dominante de type 2Y fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7175011000172119 autosomaal dominante HMSN 2Y nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7175021000172112 autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van 'valosin containing protein' nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7175031000172110 autosomaal dominante CMT 2 door VCP-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7175041000172115 autosomaal dominante motorische en sensorische neuropathie type 2Y nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Is a	Autosomal dominant Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Finding site	Nerve structure	true	Inferred relationship	Some	1
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Associated morphology	Atrophy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4674175018	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674176017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674177014	Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674178016	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674179012	A rare axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioral abnormalities have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674180010	A rare axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioural abnormalities have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9998211000172117	maladie de Charcot-Marie-Tooth autosomique dominante de type 2Y	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7175011000172119	autosomaal dominante HMSN 2Y	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7175021000172112	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van 'valosin containing protein'	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7175031000172110	autosomaal dominante CMT 2 door VCP-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7175041000172115	autosomaal dominante motorische en sensorische neuropathie type 2Y	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)